No paralogue variants have been mapped to residue 505 for KCNH2.
KCNH2 | N-ANEEVVSHPGRIAVHYFKGW-FLIDMVA>A<IPFDLLIFGSGSEE---------------- | 519 |
KCNH1 | G-PAGEVISDPKLIRMNYLKTW-FVIDLLS>C<LPYDVINAFENVDEVSAFMGDPGKIGFADQ | 333 |
KCNH3 | S-KSGQVVFAPKSICLHYVTTW-FLLDVIA>A<LPFDLLHAF-KVN----------------V | 327 |
KCNH4 | S-QSGQVISAPRSIGLHYLATW-FFIDLIA>A<LPFDLLYIF-NIT----------------V | 329 |
KCNH5 | G-PGGEVISDPKLIRMNYLKTW-FVIDLLS>C<LPYDIINAFENVDEG--------------- | 315 |
KCNH6 | N-TNDEVVSHPRRIAVHYFKGW-FLIDMVA>A<IPFDLLIFRTGSDE---------------T | 368 |
KCNH7 | N-QNEEVVSDPAKIAIHYFKGW-FLIDMVA>A<IPFDLLIFGSGSDE---------------T | 519 |
KCNH8 | S-KSGQVIFEARSICIHYVTTW-FIIDLIA>A<LPFDLLYAF-NVT----------------V | 323 |
CNGA1 | E--QGLLVKEELKLINKYKSNLQFKLDVLS>L<IPTDLLYFKLGWNY---------------- | 267 |
CNGA2 | E--QGLLVKDTKKLRDNYIHTLQFKLDVAS>I<IPTDLIYFAVDIHS---------------- | 242 |
CNGA3 | E--QGLMVSDTNRLWQHYKTTTQFKLDVLS>L<VPTDLAYLKVGTNY---------------- | 270 |
CNGA4 | E--QGILVVDKGRISSRYVRTWSFFLDLAS>L<MPTDVVYVRLGPHT---------------- | 136 |
CNGB1 | R--GGDIITDKKDMRNNYLKSRRFKMDLLS>L<LPLDFLYLKVGVN----------------- | 758 |
CNGB3 | R--GGDIIVDSNELRKHYRTSTKFQLDVAS>I<IPFDICYLFFGFN----------------- | 320 |
HCN1 | NEDSSEIILDPKVIKMNYLKSW-FVVDFIS>S<IPVDYIFLIVEK--GMDSEVYKTARALR-I | 256 |
HCN2 | IEDNTEIILDPEKIKKKYLRTW-FVVDFVS>S<IPVDYIFLIVEK--GIDSEVYKTARALR-I | 325 |
HCN3 | VEEGAEILLAPRAIRTRYLRTW-FLVDLIS>S<IPVDYIFLVVELEPRLDAEVYKTARALR-I | 209 |
HCN4 | VEDNTEIILDPQRIKMKYLKSW-FMVDFIS>S<IPVDYIFLIVET--RIDSEVYKTARALR-I | 376 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A505V | c.1514C>T | Putative Benign | SIFT: Polyphen: |